Perspective: (U.S.) High-Risk Pools — Merely a Stopgap Reform | Health Policy and Reform

NCI Cancer Bulletin: (U.S.) FDA Approves Test to Identify Candidates for Breast Cancer Drug - Trastuzumab (Herceptin) - HER2 gene

FDA Approves Test to Identify Candidates for Breast Cancer Drug

The Food and Drug Administration (FDA) has approved a genetic test that doctors can use to help identify women with breast cancer who have extra copies of the HER2 gene and therefore may benefit from the drug trastuzumab (Herceptin).
Trastuzumab targets the protein made by the HER2 gene, which is located on chromosome 17. Approximately 25 percent of breast cancers have extra copies of the HER2 gene and produce higher levels of the HER2 protein. These tumors tend to grow faster and are more likely to recur than tumors that don’t overexpress HER2........cont'd

NCI Cancer Bulletin: Testing Dose-Dense Paclitaxel (Taxol) for Ovarian and Related Cancers - GOG-0262

"....Further bolstering evidence of dose-dense paclitaxel’s promise in ovarian cancer, the Japanese GOG conducted a phase III randomized clinical trial and showed that women receiving dose-dense therapy experienced statistically significantly longer progression-free survival and were more likely to be alive after 2 years....."

“Data from phase II studies show that dose-dense paclitaxel has activity in highly resistant ovarian cancer,” said Dr. Chan. “And the Japanese study has produced promising data, but there are differences in the prevailing ovarian cancer cell types, and possibly the genomic and toxicity profiles, of ovarian cancer in Asian compared with Western women. As such, these results need to be confirmed in other ethnicities before the dose-dense regimen can be considered the new standard of care.”

For More Information

See the lists of entry criteria and trial contact information or call the NCI's Cancer Information Service at 1-800-4-CANCER (1-800-422-6237). The toll-free call is confidential.

NCI Cancer Bulletin: Design Dilemma: The Debate over Using Placebos in Cancer Clinical Trials (reference to GOG 218 Avastin/Ovarian Cancer)

abstract: Editorial: Whole-Genome Sequencing, April 20, 2011 JAMA

Note: full access requires subscription ($$)

Whole-Genome Sequencing

Since this article does not have an abstract, we have provided the first 150 words of the full text.

KEYWORDS:
• EARLY DIAGNOSIS,
• GENETIC PREDISPOSITION TO DISEASE,
• GENOME, HUMAN,
• LEUKEMIA, MYELOID, ACUTE,
• LEUKEMIA, PROMYELOCYTIC, ACUTE,
• MUTATION,
• NEOPLASMS,
• ONCOGENE PROTEINS, FUSION,
• ONCOGENES,
• SEQUENCE ANALYSIS, DNA,
• TIME FACTORS,
• TP53 GENES,
• TP53 PROTEIN, HUMAN.

The past 60 years have witnessed remarkable progress in genetics and genomics from the description of the DNA double helix by Watson and Crick ¹ to the release of the first draft sequence of the human genome in 2001 ^{2, 3} and the successful completion of the human genome project in 2003. ⁴ From that time, there has been increasing hope and expectation that, as soon as the cost of sequencing the whole genome could become affordable, the promise of personalized medicine would be fulfilled.

No field of medicine has benefited more from advances in genomics and the application of genetic testing than oncology. These advances have had a substantial influence on cancer risk assessment, determination of prognosis, and choice of treatment. Clinical applications of novel genetic tools include sequencing and analysis of germline genomic rearrangements at key cancer genes like BRCA1, BRCA2, and TP53 ⁵; …

NCI Cancer Bulletin: Whole-Genome Sequencing Improves Cancer Diagnoses (including some good links eg Li-Fraumeni Syndrome, BRCA, Editorial)

Whole-Genome Sequencing Improves Cancer Diagnoses

Although whole-genome sequencing is not yet ready for routine clinical use, two studies show how the approach could improve the diagnosis and, potentially, the treatment of cancer. The reports, in the April 20 Journal of the American Medical Association, describe how researchers at Washington University School of Medicine in St. Louis and their colleagues used whole-genome sequencing to investigate the cases of two patients.
The first study focused on a 42-year-old woman who died from leukemia that was probably related to previous treatment for breast and ovarian cancers. The woman did not have a known family history of cancer, and tests for mutations in the breast cancer-associated genes BRCA1 and BRCA2 were negative. But a comparison of the genomes of her cancer cells and normal cells revealed a novel mutation in the TP53 gene that altered the function of the encoded protein. TP53 gene mutations have been implicated in a number of cancers, including some early-onset breast and ovarian cancers, as well as Li-Fraumeni syndrome.
The TP53 mutation does not appear to have been inherited from one of the patient’s parents. But because the mutation was seen in both normal and cancer cells, it had to have occurred very early in the patient’s life, possibly at conception. Thus, the mutation could have been present in her germline DNA and been passed on to her children, the researchers noted.
As specified by the study protocol, the researchers contacted the woman’s primary care physician, who then discussed the issue with the patient’s family members and encouraged them to seek genetic counseling. “Even though the patient died, her contribution to this study yielded new knowledge that might one day save the lives of her children,” study co-author Dan Koboldt of the Genome Institute at Washington University wrote in a post about the studies on his blog, MassGenomics.
The second study involved a 39-year-old woman with a form of acute myeloid leukemia (AML). A comparison of DNA from her tumor and normal cells revealed a fusion of two genes in her blood cells that was not detected through routine cytogenetic testing. The presence of this gene fusion is associated with good outcomes after chemotherapy. Consequently, the patient’s doctors recommended chemotherapy rather than stem cell transplantation, the treatment that had been indicated by the standard diagnostic testing results.
At the time of publication, the woman had been in remission for 15 months. The sequencing, analysis, and validation of the fusion gene were completed in just 7 weeks, which was quick enough that doctors could use the information to choose the most effective treatment for the patient, the researchers noted.
“These cases of personalized genomic medicine are just some of the first examples of what will likely be commonplace in the near future,” wrote the authors of an accompanying editorial.
“Clearly, the technology will no longer be the major impediment to widespread clinical use of these tools, and the main challenges will soon move to the clinical implementation and interpretation of genomic data,” the authors added.